SLC12A4, solute carrier family 12 member 4, 6560

N. diseases: 23; N. variants: 12
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121908051
rs121908051 		1.000 0.080 16 67944001 missense variant G/A snv
CUI: C0342895
Disease: Fish-Eye Disease
Fish-Eye Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 7 1992 2011
dbSNP: rs1109166
rs1109166 		16 67943479 5 prime UTR variant T/C snv 0.32
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 2 2012 2017
dbSNP: rs2292318
rs2292318 		0.925 0.120 16 67951803 intron variant C/A;T snv 0.15
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 2 2012 2017
dbSNP: rs1461145750
rs1461145750 		1.000 0.080 16 67943207 missense variant C/T snv 8.0E-06
CUI: C0023195
Disease: Lecithin Acyltransferase Deficiency
Lecithin Acyltransferase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 15 1990 2006
dbSNP: rs1109166
rs1109166 		16 67943479 5 prime UTR variant T/C snv 0.32
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1109166
rs1109166 		16 67943479 5 prime UTR variant T/C snv 0.32
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2292318
rs2292318 		0.925 0.120 16 67951803 intron variant C/A;T snv 0.15
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3785098
rs3785098 		16 67959740 intron variant T/C snv 0.33
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs3785100
rs3785100 		16 67964017 missense variant T/C snv 0.15 0.16
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2018 2018
dbSNP: rs7195605
rs7195605 		16 67955620 intron variant T/A;C snv
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs748427834
rs748427834 		1.000 0.080 16 67943158 missense variant A/T snv 4.0E-06
CUI: C0342895
Disease: Fish-Eye Disease
Fish-Eye Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs971887742
rs971887742 		1.000 0.080 16 67943992 missense variant G/A snv 2.6E-05 1.4E-05
CUI: C0023195
Disease: Lecithin Acyltransferase Deficiency
Lecithin Acyltransferase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs2292318
rs2292318 		0.925 0.120 16 67951803 intron variant C/A;T snv 0.15
CUI: C3160761
Disease: Diabetic dyslipidaemia
Diabetic dyslipidaemia 		0.010 1.000 1 2017 2017
dbSNP: rs2292318
rs2292318 		0.925 0.120 16 67951803 intron variant C/A;T snv 0.15
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2292318
rs2292318 		0.925 0.120 16 67951803 intron variant C/A;T snv 0.15
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs560140762
rs560140762 		1.000 0.080 16 67944067 missense variant G/A snv 1.6E-04 7.0E-05
CUI: C0342895
Disease: Fish-Eye Disease
Fish-Eye Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2004 2004
dbSNP: rs749574144
rs749574144 		1.000 0.080 16 67943143 missense variant T/C snv 8.0E-06 7.0E-06
CUI: C0023195
Disease: Lecithin Acyltransferase Deficiency
Lecithin Acyltransferase Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs781370503
rs781370503 		1.000 0.080 16 67968562 synonymous variant C/T snv 1.8E-05 7.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2010 2010